Phenotype #0000267365

Individual ID 00372027
Associated disease SCN
Diagnosis/Initial severe congenital neutropenia
Diagnosis/Definite SCN8
Phenotype details see paper; ..., 106 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation
Inheritance Isolated (sporadic)
Age/Examination 43y (43 years)
Age/Diagnosis 9m
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-04 20:20:47 +02:00 (CEST)
Date last edited N/A

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